Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports.

BACKGROUND: Recently, there have been significant advances in the treatment of spinal muscular atrophy (SMA). Although clinical improvement in patients with SMA after the treatment has been reported, changes in electrophysiological findings, especially needle electromyography (EMG), have rarely been reported. Herein, we report the posttreatment changes in EMG and nerve conduction study findings over time in two patients with SMA type I. CASE PRESENTATION: Patient 1: A 2.5-year-old girl was diagnosed with SMA type I at 1 month of age. She received nusinersen four times and onasemnogene abeparvovec (OA) was administered at 6 months of age. The compound muscle action potential (CMAP) amplitudes of the median and tibial nerves increased over time. The needle EMG after the treatment showed high-amplitude motor unit potentials (MUPs) suggestive of reinnervation during voluntary contraction, which were not seen before the treatment. However, fibrillation potentials at rest were still seen after the treatment. Patient 2: A 2-year-old girl was diagnosed with SMA type I at 6 months of age. She had received nusinersen two times and OA was administered at 7 months of age. The CMAP amplitudes and the MUPs presented similar changes as presented in Case 1. CONCLUSION: This is the first report on the changes in needle EMG findings after treatment in patients with SMA type I. These findings suggested that peripheral nerve reinnervation occurred after the treatment, although active denervation was still present. The accumulation of these findings will be important for evaluating the effectiveness of treatment for SMA in the future.

Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child.

Patients with multisystem inflammatory syndrome in children (MIS-C) can develop clinical features resembling Kawasaki disease (KD). A full picture of MIS-C in East Asia which has higher incidence of KD than other regions remains unclear. We report on a 15-year-old Japanese boy with refractory MIS-C who was successfully treated with infliximab. A Japanese boy who was diagnosed with coronavirus disease 2019 (COVID-19) before a month developed MIS-C with fulfilling six principal symptoms of KD. Laboratory data showed extreme hyperferritinemia (11,404 ng/mL), besides lymphopenia and thrombocytopenia. The patient was refractory to initial therapy with intravenous immunoglobulin (IVIG; 2 g/kg), aspirin, and prednisolone. He was therefore administered a second IVIG (2 g/kg) and infliximab (5 mg/kg) on days 7 and 8 from the onset of fever, respectively, which resulted in an improvement of clinical symptoms. Only four Japanese cases with MIS-C were reported and all of them were responsive to IVIG. The hyperferritinemia in this case was distinctive from previously reported MIS-C cases in Japan and other cohorts and may be associated with refractoriness to IVIG therapy. Marked elevation of circulating ferritin levels is known to be induced by tumor necrosis factor-α, which plays a key role in the pathogenesis of both KD and MIS-C. Thus, for MIS-C patients with hyperferritinemia, early intervention with adjunctive infliximab may induce a more rapid resolution of inflammation and improve outcome. Because MIS-C may be heterogeneous with respect to immunopathology, genetic background, clinical phenotypes and response to therapies, optimized treatment strategies according to immunopathogenesis are required.

Evaluation of Tibial Tunnel Location with the Femoral Tunnel Created Behind the Resident's Ridge in Transtibial Anterior Cruciate Ligament Reconstruction.

Few studies have determined whether a femoral bone tunnel could be created behind the resident's ridge by using a transtibial (TT) technique-single bundle (SB)-anterior cruciate ligament (ACL) reconstruction. The aim of this study was to clarify (1) whether it is possible to create a femoral bone tunnel behind the resident's ridge by using the TT technique with SB ACL reconstruction, (2) to define the mean tibial and femoral tunnel angles during anatomic SB ACL reconstruction, and (3) to clarify the tibial tunnel inlet location when the femoral tunnel is created behind resident's ridge. Arthroscopic TT-SB ACL reconstruction was performed on 36 patients with ACL injuries. The point where 2.4-mm guide pin was inserted was confirmed, via anteromedial portal, to consider a location behind the resident's ridge. Then, an 8-mm diameter femoral tunnel with a 4.5-mm socket was created. Tunnel positions were evaluated by using three-dimensional computed tomography (3D-CT) 1 week postoperatively. Quadrant method and the resident's ridge on 3D-CT were evaluated to determine whether femoral tunnel position was anatomical. Radiological evaluations of tunnel positions yielded mean ( ± standard deviation) X- and Y-axis values for the tunnel centers: femoral tunnel, 25.2% ± 5.1% and 41.6% ± 10.2%; tibial tunnel, 49.2% ± 3.5%, and 31.5% ± 7.7%. The bone tunnels were anatomically positioned in all cases. The femoral tunnel angle relative to femoral axis was 29.4 ± 5.5 degrees in the coronal view and 43.5 ± 8.0 degrees in the sagittal view. The tibial tunnel angle relative to tibial axis was 25.5 ± 5.3 degrees in the coronal view and 52.3 ± 4.6 degrees in the sagittal view. The created tibial bone tunnel inlet had an average distance of 13.4 ± 2.7 mm from the medial tibial joint line and 9.7 ± 1.7 mm medial from the axis of the tibia. Femoral bone tunnel could be created behind the resident's ridge with TT-SB ACL reconstruction. The tibial bone tunnel inlet averaged 13.4 mm from the medial tibial joint line and 9.7 mm medial from the tibia axis.

Nonconvulsive status epilepticus following rotavirus gastroenteritis in two pediatric patients.

BACKGROUND: Nonconvulsive status epilepticus (NCSE) comprises a range of conditions in which prolonged electrographic seizures result in nonconvulsive clinical symptoms. An understanding of NCSE is especially important in emergency care. Among the various causes of NCSE, an infectious etiology has been rarely reported to date. CASE REPORTS: We report two pediatric cases of rotavirus gastroenteritis complicated by NCSE. In both cases, bilateral rhythmic delta activity (2.5-3 Hz) with occipital predominance fluctuated with the patient's consciousness level. The paroxysmal waves disappeared completely and consciousness immediately and remarkably improved after intravenous midazolam infusion. The patients remained alive 10 and 2 years, respectively, after short-term oral anticonvulsant administration, with no epileptic seizures. CONCLUSION: The etiology of NCSE was identical and the clinical presentations were analogous in the two patients. The seizure semiology differed from that in benign convulsion with gastroenteritis. NCSE was considered the prominent cause of neurological symptoms; however, the pathogenic mechanism remains unclear, including the coexistence of acute encephalopathy.